ReviewReproductive sciences (Thousand Oaks, Calif.)2022
Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption.
Review in Reproductive sciences (Thousand Oaks, Calif.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Color Doppler Ultrasound Parameters of Fetal Umbilical Artery and Middle Cerebral Artery Assist in Diagnosing Hypertensive Disorder of Pregnancy and Evaluating the Severity in Women of Advanced Maternal Age.Echocardiography (Mount Kisco, N.Y.) · 2026Article
- Body Composition by DXA in Patients with Klinefelter and Kallmann Syndrome: The Kama Study.The Journal of clinical endocrinology and metabolism · 2026Observational
- Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report.Case reports in obstetrics and gynecology · 2026Article
- A familial case of Kallmann syndrome: novel variants in ANOS1 and GNRHR genes.Archives of endocrinology and metabolism · 2025Article
- Sperm DNA methylation profiling in patients with Kallmann syndrome.Endocrine connections · 2025Article
- PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance.Global medical genetics · 2025Article
- Co-occurrence of a Mullerian anomaly and Kallmann syndrome: A case report.Case reports in women's health · 2025Article
- An Effective Outcome Despite Delayed Treatment Initiation in a Female With Kallmann Syndrome: A Case Report.Cureus · 2025Article
- A Current Perspective on Delayed Puberty and Its ManagementJournal of clinical research in pediatric endocrinology · 2024Review
- The multifaceted links between hearing loss and chronic kidney disease.Nature reviews. Nephrology · 2024Review
- Illuminating the terminal nerve: Uncovering the link between GnRH-1 neuron and olfactory development.The Journal of comparative neurology · 2024Article
- DigenicHeliyon · 2024Article
- Environmental and Genetic Traffic in the Journey from Sperm to Offspring.Biomolecules · 2023Review
- A rare disease of Kallmann syndrome: A case report.Radiology case reports · 2023Article
- Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.Human molecular genetics · 2022Article
- Article
- Mouse Cre drivers: tools for studying disorders of the human female neuroendocrine-reproductive axis†.Biology of reproduction · 2022Review
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Authors and funding
2 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients. Because of the phenotypic heterogeneity, genetic diagnosis become increasingly valuable to distinguish KS from other disorders including normosmic congenital hypogonadotropic hypogonadism, constitutional delay of growth and puberty, CHARGE syndrome, and functional hypogonadotropic hypogonadism. Application of next-generation sequencing has promoted the discovery of novel pathogenic genes in KS pedigrees. Prenatal diagnosis is an effective method in clinical settings to decrease birth defects and block transmission of genetic disorders. However, pregnant women may suffer from physical and psychological distress when fetuses are diagnosed with congenital defects. Preimplantation genetic testing (PGT) is a prospective approach during the in vitro fertilization process that helps to interrupt transmission of hereditary diseases to offspring at an early stage. Thus, genetic testing and counseling are recommended to KS patients with family histories, prenatal diagnosis and PGT are considered to be useful options.
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